DEFB104B

Chr 8

defensin beta 104B

Also known as: BD-4, DEFB-4, hBD-4

NCBI Gene: 503618ENSG00000177023UniProt: Q8WTQ1

Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
1
Pubs (1 yr)
-0.1
Missense Z
1.84
LOEUF
Clinical Summary— DEFB104B
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.84LOEUF
pLI 0.332
Z-score 0.63
OE 0.00 (0.00–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.10Z-score
OE missense 1.13 (0.57–1.86)
5 obs / 4.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.00 (0.00–1.84)
0≤0.351.4
Missense OE1.13 (0.57–1.86)
0≤0.61.4
Synonymous OE2.53
0≤1.21.6
LoF obs/exp: 0 / 0.5Missense obs/exp: 5 / 4.4Syn Z: -1.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

DEFB104B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients